Antisense Oligonucleotide for Dentatorubral-Pallidoluysian Atrophy

Age: 18+

Sex: Male

Trial Phase: Phase 1 & 2

Sponsor: n-Lorem Foundation

Must not be taking: Investigational drugs

Disqualifiers: Other conditions, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

Duration: Baseline to 24 months

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new personalized treatment called an antisense oligonucleotide, a drug designed to target specific genetic issues, for individuals with dentatorubral-pallidoluysian atrophy (DRPLA). DRPLA results from a genetic mutation in the ATN1 gene. The trial aims to determine if this treatment, known as nL-ATN1-001, can alleviate symptoms caused by this mutation. It is open to participants with a confirmed genetic diagnosis of DRPLA who can travel for the study. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive it.

Do I have to stop taking my current medications for this trial?

The trial does not specify if you need to stop taking your current medications, but you cannot use any investigational drugs within a certain period before enrolling. It's best to discuss your specific medications with the study team.

Is there any evidence suggesting that this treatment is likely to be safe for humans?

In past studies, treatments like nL-ATN1-001, known as antisense oligonucleotides (ASOs), have been used for genetic conditions similar to dentatorubral-pallidoluysian atrophy (DRPLA). These studies have shown that ASOs are generally well-tolerated. Some participants experienced mild side effects, such as headaches or injection site reactions, but these were usually not serious.

The treatment nL-ATN1-001 remains in the early stages of research, so information about its safety for DRPLA is limited. However, ASOs have been studied for other conditions and are often considered safe enough to warrant further research. This suggests a reasonable expectation of safety, though individual responses can vary. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Researchers are excited about nL-ATN1-001 for dentatorubral-pallidoluysian atrophy because it uses antisense oligonucleotide technology, which is a novel approach for this condition. Unlike traditional symptomatic treatments that manage the disease's effects, nL-ATN1-001 targets the genetic root by blocking the production of the mutant protein responsible for the disease. This targeted approach has the potential to slow down or even halt disease progression, offering hope for more effective management of this rare disorder.

What evidence suggests that this treatment might be an effective treatment for DRPLA?

Research has shown that antisense oligonucleotides (ASOs) could aid in treating genetic disorders like dentatorubral-pallidoluysian atrophy (DRPLA). A mutation in the ATN1 gene causes DRPLA, and ASOs are designed to target and modify the function of these faulty genes. Early studies on similar genetic conditions suggest that ASOs can reduce the harmful effects of gene mutations. The investigational treatment nL-ATN1-001 in this trial focuses on the specific issue in the ATN1 gene, aiming to address the root cause of DRPLA. Although human studies have provided limited data, this approach is grounded in a strong understanding of the disease, offering hope to those affected by this rare condition. ^{1 5 6 7 8}

Are You a Good Fit for This Trial?

This trial is specifically for one person with a rare condition called dentatorubral-pallidoluysian atrophy (DRPLA), caused by a certain genetic mutation in the ATN1 gene. The eligibility criteria are not detailed here as it's tailored for an individual case.

Inclusion Criteria

Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)

I can travel to the study site and follow the study's requirements.

I have a genetic condition called DRPLA confirmed by a test.

Exclusion Criteria

Use of investigational medication within 5 half-lives of the drug at enrolment

Participant has any condition that in the opinion of the Site Investigator would ultimately prevent the completion of study procedures

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Administration of a personalized antisense oligonucleotide (ASO) drug for the participant

Baseline to 24 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

24 months

What Are the Treatments Tested in This Trial?

Interventions

• nL-ATN1-001

Trial Overview The trial is testing a personalized medicine approach using an antisense oligonucleotide (ASO) drug, named nL-ATN1-001, which is custom-made to target the genetic mutation responsible for DRPLA in this single participant.

How Is the Trial Designed?

Group I: Open Label Experimental Treatment 1 Intervention

Who Is Running the Clinical Trial?

n-Lorem Foundation

Lead Sponsor

Trials

5

Recruited

5+

Dell Children's Medical Center of Central Texas

Collaborator

Trials

7

Recruited

5,004,000+

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT07084311

Personalized Antisense Oligonucleotide for A Single ... Clinical phenotype and neuroimaging consistent with a diagnosis of ATN1 mutation associated Dentatorubral-pallidoluysian atrophy (DRPLA).

2. clinicaltrials.gov clinicaltrials.gov/study/NCT07221760

Personalized Antisense Oligonucleotide for A Single ... Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation. Exclusion Criteria: Use of investigational medication ...

3. trial.medpath.com trial.medpath.com/clinical-trial/4825d33d334b6d17/nct06706388-experimental-antisense-oligonucleotide-treatment-atn1-gene-mutation

Personalized Antisense Oligonucleotide Therapy for a Single ... This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a ...

4. academic.oup.com academic.oup.com/nar/article/53/8/gkaf346/8119804

N=1 Collaborative: advancing customized nucleic acid ... Initially focusing on antisense oligonucleotides (ASOs) for rare, fatal neurodegenerative conditions, the N1C aims to develop frameworks that ...

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11075437/

a patient organization perspective Dentatorubral-pallidoluysian atrophy (DRPLA) is an ultra-rare neurodegenerative disorder characterized by ataxia, cognitive decline, ...

6. clinicaltrials.gov clinicaltrials.gov/study/NCT06706388

Personalized Antisense Oligonucleotide Therapy for a ... Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation. Exclusion Criteria: Use of investigational medication within 5 half- ...

7. patlynk.com patlynk.com/trial/NCT07221760

Experimental Antisense Oligonucleotide for DRPLA with ... The study is designed to test the safety and effectiveness of a new drug called antisense oligonucleotide (ASO) in a single participant. DRPLA ...

8. ctv.veeva.com ctv.veeva.com/study/personalized-antisense-oligonucleotide-therapy-for-a-single-participant-with-atn1-gene-mutation

Personalized Antisense Oligonucleotide Therapy for a Single ... Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation ... Data sourced from clinicaltrials.gov. Clinical ...